P20020 (AT2B1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 134.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Plasma membrane calcium-transporting ATPase 1 Short name=PMCA1 EC=3.6.3.8 Alternative name(s): Plasma membrane calcium ATPase isoform 1 Plasma membrane calcium pump isoform 1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1258 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. |
| Catalytic activity | ATP + H2O + Ca2+[side 1] = ADP + phosphate + Ca2+[side 2]. |
| Subcellular location | |
| Tissue specificity | Isoform B is ubiquitously expressed. Isoform C is found in brain cortex, skeletal muscle and heart muscle. Isoform D has only been found in fetal skeletal muscle. Isoform K has been found in small intestine and liver. |
| Domain | The calmodulin-binding subdomain B is different in the different splice variants and shows pH dependent calmodulin binding properties in isoforms A, C, D and E. |
| Sequence similarities | Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily. [View classification] |
Ontologies
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform D (identifier: P20020-1) Also known as: CIV; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform A (identifier: P20020-2) Also known as: CII; The sequence of this isoform differs from the canonical sequence as follows: 1156-1258: IRVVNAFRSS...SPLHSLETSL → VVFSSSTASTTVGYSSGECIS | ||||||
| Isoform B (identifier: P20020-3) Also known as: CI; The sequence of this isoform differs from the canonical sequence as follows: 1118-1155: Missing. | ||||||
| Isoform C (identifier: P20020-4) Also known as: CIII; The sequence of this isoform differs from the canonical sequence as follows: 1147-1155: Missing. | ||||||
| Isoform E (identifier: P20020-5) Also known as: CV; The sequence of this isoform differs from the canonical sequence as follows: 1156-1258: IRVVNAFRSS...SPLHSLETSL → VVFSSSTASTTVGFEW | ||||||
| Isoform K (identifier: P20020-6) The sequence of this isoform differs from the canonical sequence as follows: 1021-1056: Missing. 1118-1155: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1258 | 1258 | Plasma membrane calcium-transporting ATPase 1 | PRO_0000046209 | |||||
Regions | |||||||||
| Topological domain | 1 – 97 | 97 | Cytoplasmic Potential | ||||||
| Transmembrane | 98 – 118 | 21 | Helical; Potential | ||||||
| Topological domain | 119 – 154 | 36 | Extracellular Potential | ||||||
| Transmembrane | 155 – 175 | 21 | Helical; Potential | ||||||
| Topological domain | 176 – 366 | 191 | Cytoplasmic Potential | ||||||
| Transmembrane | 367 – 386 | 20 | Helical; Potential | ||||||
| Topological domain | 387 – 419 | 33 | Extracellular Potential | ||||||
| Transmembrane | 420 – 437 | 18 | Helical; Potential | ||||||
| Topological domain | 438 – 852 | 415 | Cytoplasmic Potential | ||||||
| Transmembrane | 853 – 872 | 20 | Helical; Potential | ||||||
| Topological domain | 873 – 882 | 10 | Extracellular Potential | ||||||
| Transmembrane | 883 – 903 | 21 | Helical; Potential | ||||||
| Topological domain | 904 – 923 | 20 | Cytoplasmic Potential | ||||||
| Transmembrane | 924 – 946 | 23 | Helical; Potential | ||||||
| Topological domain | 947 – 964 | 18 | Extracellular Potential | ||||||
| Transmembrane | 965 – 986 | 22 | Helical; Potential | ||||||
| Topological domain | 987 – 1005 | 19 | Cytoplasmic Potential | ||||||
| Transmembrane | 1006 – 1027 | 22 | Helical; Potential | ||||||
| Topological domain | 1028 – 1037 | 10 | Extracellular Potential | ||||||
| Transmembrane | 1038 – 1059 | 22 | Helical; Potential | ||||||
| Topological domain | 1060 – 1258 | 199 | Cytoplasmic Potential | ||||||
| Region | 1100 – 1117 | 18 | Calmodulin-binding subdomain A | ||||||
| Region | 1118 – 1127 | 10 | Calmodulin-binding subdomain B | ||||||
| Compositional bias | 296 – 299 | 4 | Poly-Glu | ||||||
Sites | |||||||||
| Active site | 475 | 1 | 4-aspartylphosphate intermediate | ||||||
| Metal binding | 797 | 1 | Magnesium By similarity | ||||||
| Metal binding | 801 | 1 | Magnesium By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 17 | 1 | Phosphoserine Ref.13 | ||||||
| Modified residue | 1116 | 1 | Phosphothreonine; by PKC | ||||||
| Modified residue | 1193 | 1 | Phosphoserine Ref.12 Ref.13 | ||||||
| Modified residue | 1203 | 1 | Phosphothreonine Ref.13 | ||||||
| Modified residue | 1216 | 1 | Phosphoserine; by PKA Ref.12 Ref.13 | ||||||
| Modified residue | 1220 | 1 | Phosphoserine Ref.12 Ref.13 | ||||||
| Modified residue | 1246 | 1 | Phosphoserine Ref.13 | ||||||
| Modified residue | 1249 | 1 | Phosphoserine Ref.13 | ||||||
| Modified residue | 1253 | 1 | Phosphoserine Ref.13 | ||||||
| Modified residue | 1256 | 1 | Phosphothreonine Ref.13 | ||||||
| Modified residue | 1257 | 1 | Phosphoserine Ref.13 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1021 – 1056 | 36 | Missing in isoform K. | VSP_000372 | |||||
| Alternative sequence | 1118 – 1155 | 38 | Missing in isoform B and isoform K. | VSP_000373 | |||||
| Alternative sequence | 1147 – 1155 | 9 | Missing in isoform C. | VSP_000374 | |||||
| Alternative sequence | 1156 – 1258 | 103 | IRVVN…LETSL → VVFSSSTASTTVGYSSGECI S in isoform A. | VSP_000375 | |||||
| Alternative sequence | 1156 – 1258 | 103 | IRVVN…LETSL → VVFSSSTASTTVGFEW in isoform E. | VSP_000376 | |||||
| Natural variant | 267 | 1 | M → R Rare polymorphism. Ref.14 | VAR_000698 | |||||
Experimental info | |||||||||
| Sequence conflict | 259 – 262 | 4 | LLLS → MSAT in AAA36000. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Complete primary structure of a human plasma membrane Ca2+ pump." Verma A.K., Filoteo A.G., Stanford D.R., Wieben E.D., Penniston J.T., Strehler E.E., Fischer R., Heim R., Vogel G., Mathews S., Strehler-Page M.-A., James P., Vorherr T.E., Krebs J., Carafoli E. J. Biol. Chem. 263:14152-14159(1988) [PubMed: 2844759] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B). Tissue: Erythrocyte. |
| [2] | "Molecular cloning of a plasma membrane calcium pump from human osteoblasts." Kumar R., Haugen J.D., Penniston J.T. J. Bone Miner. Res. 8:505-513(1993) [PubMed: 8386431] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B). Tissue: Osteoblast. |
| [3] | "Structure of the gene encoding the human plasma membrane calcium pump isoform 1." Hilfiker H., Strehler-Page M.-A., Stauffer T.P., Carafoli E., Strehler E.E. J. Biol. Chem. 268:19717-19725(1993) [PubMed: 8396145] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS A AND B). Tissue: Leukocyte. |
| [4] | Strehler E.E., Strehler-Page M.-A. Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION. |
| [5] | "mRNAs for plasma membrane calcium pump isoforms differing in their regulatory domain are generated by alternative splicing that involves two internal donor sites in a single exon." Strehler E.E., Strehler-Page M.-A., Vogel G., Carafoli E. Proc. Natl. Acad. Sci. U.S.A. 86:6908-6912(1989) [PubMed: 2528729] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS A; C AND D). Tissue: Fetal skeletal muscle. |
| [6] | "Study of calmodulin binding to the alternatively spliced C-terminal domain of the plasma membrane Ca2+ pump." Kessler F., Falchetto R., Heim R., Meili R., Vorherr T.E., Strehler E.E., Carafoli E. Biochemistry 31:11785-11792(1992) [PubMed: 1332771] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A). Tissue: Fetal brain. |
| [7] | "Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes." Stauffer T.P., Hilfiker H., Carafoli E., Strehler E.E. J. Biol. Chem. 268:25993-26003(1993) [PubMed: 8245032] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND E). Tissue: Brain cortex. |
| [8] | Erratum Stauffer T.P., Hilfiker H., Carafoli E., Strehler E.E. J. Biol. Chem. 269:32022-32022(1994) [PubMed: 7989379] [Abstract] |
| [9] | "Human and rat intestinal plasma membrane calcium pump isoforms." Howard A., Legon S., Walters J.R. Am. J. Physiol. 265:G917-G925(1993) [PubMed: 7694502] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORM K). Tissue: Small intestine mucosa. |
| [10] | "Primary structure of the cAMP-dependent phosphorylation site of the plasma membrane calcium pump." James P.H., Pruschy M., Vorherr T.E., Penniston J.T., Carafoli E. Biochemistry 28:4253-4258(1989) [PubMed: 2548572] [Abstract] Cited for: PHOSPHORYLATION BY CAMP KINASE. |
| [11] | "Protein kinase C phosphorylates the carboxyl terminus of the plasma membrane Ca(2+)-ATPase from human erythrocytes." Wang K.K.W., Wright L.C., Machan C.L., Allen B.G., Conigrave A.D., Roufogalis B.D. J. Biol. Chem. 266:9078-9085(1991) [PubMed: 1827443] [Abstract] Cited for: PHOSPHORYLATION BY PROTEIN KINASE C. |
| [12] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1193; SER-1216 AND SER-1220, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [13] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-17; SER-1193; THR-1203; SER-1216; SER-1220; SER-1246; SER-1249; SER-1253; THR-1256 AND SER-1257, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [14] | "Investigation of the Met-267 Arg exchange in isoform 1 of the human plasma membrane calcium pump in patients with essential hypertension by the amplification-created restriction site technique." Benkwitz C., Kubsisch C., Kraft K., Neyses L. J. Mol. Med. 75:62-66(1997) [PubMed: 9020386] [Abstract] Cited for: VARIANT ARG-267. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | J04027 mRNA. Translation: AAA74511.1. M95541 mRNA. Translation: AAA35999.1. M95542 mRNA. Translation: AAA36000.1. L14561 Genomic DNA. Translation: AAD09924.1. L14561 Genomic DNA. Translation: AAD09925.1. M25824 Genomic DNA. Translation: AAA58383.1. M25824 Genomic DNA. Translation: AAA58382.1. M25824 Genomic DNA. Translation: AAA58381.1. S49852 mRNA. Translation: AAB24324.1. U15686 mRNA. Translation: AAA60983.1. U15687 mRNA. Translation: AAA60984.1. |
| IPI | IPI00021695. IPI00216526. IPI00216527. IPI00216528. IPI00216529. IPI00216530. |
| PIR | A30802. E49570. I55491. I70165. |
| RefSeq | NP_001001323.1. NM_001001323.1. NP_001673.2. NM_001682.2. |
| UniGene | Hs.506276. |
3D structure databases | |
| ProteinModelPortal | P20020. |
| SMR | P20020. Positions 180-294, 771-828, 1100-1126. |
| ModBase | Search... |
Protein-protein interaction databases | |
| MINT | MINT-5004114. |
| STRING | P20020. |
Protein family/group databases | |
| TCDB | 3.A.3.2.25. P-type ATPase (P-ATPase) superfamily. |
PTM databases | |
| PhosphoSite | P20020. |
Polymorphism databases | |
| DMDM | 14286104. |
Proteomic databases | |
| PRIDE | P20020. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000428670; ENSP00000392043; ENSG00000070961. |
| GeneID | 490. |
| KEGG | hsa:490. |
| UCSC | uc001tbg.1. human. uc001tbh.1. human. |
Organism-specific databases | |
| CTD | 490. |
| GeneCards | GC12M089916. |
| HGNC | HGNC:814. ATP2B1. |
| HPA | CAB005605. HPA011166. HPA012945. |
| MIM | 108731. gene. |
| neXtProt | NX_P20020. |
| PharmGKB | PA25107. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | HBG061286. |
| OMA | VYGICTR. |
| OrthoDB | EOG4KPT93. |
| PhylomeDB | P20020. |
Enzyme and pathway databases | |
| Reactome | REACT_15518. Transmembrane transport of small molecules. REACT_604. Hemostasis. |
Gene expression databases | |
| ArrayExpress | P20020. |
| Bgee | P20020. |
| CleanEx | HS_ATP2B1. |
| Genevestigator | P20020. |
| GermOnline | ENSG00000070961. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR022141. ATP_Ca_trans_C. IPR023306. ATPase_cation_domN. IPR008250. ATPase_P-typ_ATPase-assoc-dom. IPR006408. ATPase_P-typ_Ca-transp_PMCA. IPR006068. ATPase_P-typ_cation-transptr_C. IPR004014. ATPase_P-typ_cation-transptr_N. IPR023300. ATPase_P-typ_cyto_domA. IPR023299. ATPase_P-typ_cyto_domN. IPR001757. ATPase_P-typ_ion-transptr. IPR018303. ATPase_P-typ_P_site. IPR023298. ATPase_P-typ_TM_dom. IPR005834. Dehalogen-like_hydro. IPR023214. HAD-like_dom. [Graphical view] |
| Gene3D | G3DSA:2.70.150.10. ATPase_P-typ_cyto_domA. 1 hit. G3DSA:3.40.1110.10. ATPase_P-typ_cyto_domN. 1 hit. G3DSA:1.20.1110.10. ATPase_P-typ_TM_dom. 1 hit. |
| KO | K05850. |
| Pfam | PF12424. ATP_Ca_trans_C. 2 hits. PF00689. Cation_ATPase_C. 1 hit. PF00690. Cation_ATPase_N. 1 hit. PF00122. E1-E2_ATPase. 1 hit. PF00702. Hydrolase. 1 hit. [Graphical view] |
| PRINTS | PR00119. CATATPASE. |
| SMART | SM00831. Cation_ATPase_N. 1 hit. [Graphical view] |
| SUPFAM | SSF81660. ATPase_cation_domN. 1 hit. SSF56784. HAD-like_dom. 1 hit. |
| TIGRFAMs | TIGR01517. ATPase-IIB_Ca. 1 hit. TIGR01494. ATPase_P-type. 3 hits. |
| PROSITE | PS00154. ATPASE_E1_E2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 2053. |
| SOURCE | Search... |
Entry information
| Entry name | AT2B1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P20020 Secondary accession number(s): Q12992 Q93082 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with